The child had a refractive error of + 3D in OU. Color vision was found to be normal for the child. Swept-source OCT revealed an absent foveal contour and preservation of retinal layers in the foveal area [Figure 1]c, [Figure 1]d. A diagnosis of ocular albinism and foveal hypoplasia was made, and the parents were explained about the prognosis. The child was prescribed glasses and was advised regular follow-up in addition to a strabismic evaluation.

Diagnosis

Ocular albinism with foveal hypoplasia

Correct Answer: A.

Discussion

Ocular albinism is an X-linked disorder in contrast to oculocutaneous albinism, which is inherited in a autosomal recessive manner.[1],[2] Patients usually present with a variable decrease in visual acuity (visual acuity ranging from 20/60 to 20/400), nystagmus, strabismus, and photophobia. While oculocutaneous albinism is an easy diagnosis, ocular albinism may pose a diagnostic challenge as iris may not be hypopigmented.[1],[2] The patients are frequently mistaken as having myopia as the fundus is lightly pigmented. Foveal hypoplasia is a frequent association and can be easily missed. Absent foveal reflex, FAZ, and macular pigments indicate foveal hypoplasia, which can be confirmed on OCT (preservation of retinal layers at fovea) or fundus fluorescein angiography (absent FAZ).

Ocular albinism is characterized by mutation in the GPR143 gene leading to dysfunctional melanosome ultimately resulting in macromelanosomes.[1],[2] Melanin acts as an inducer and organizer of the formation of the fovea, optic nerves, optic tracts, and visual cortex. Absence or deficiency of melanin leads to ocular structure malformation and optic tract misrouting.

To conclude, high index of suspicion is required to diagnose ocular albinism as the fundus in these cases is easily confused with myopia.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.